WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112093693_112095870del | CA913190226 | SDHD | c.314+4682_314+6859del (n.314+4682_314+6859del) n.319+4682_319+6859del c.145+4682_145+6859del | ClinVar |
| 11 | g.112094804_112094970delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | CA2000553729 | SDHD | c.*54-1_*219delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA (n.314+5793_314+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA) c.315-1_480delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.198-1_363delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.319+5793_319+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.*13-1_*178delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.170-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.308-1_*77delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.359-1_524delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA c.145+5793_145+5959delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.453-1_618delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA n.404-1_569delinsGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGA | |
| 11 | g.112094805_112094970del | CA645509538 | SDHD | c.*54_*219del (n.*54_*219del) c.314+5794_314+5959del (n.314+5794_314+5959del) c.315_480del (p.Trp105CysfsTer8) c.198_363del (p.Trp66CysfsTer8) n.319+5794_319+5959del c.*13_*178del (n.*13_*178del) c.170_*77del (n.[c.170_*77del;Trp57SerfsTer30]) c.308_*77del (n.[c.308_*77del;Gly103AlafsTer30]) c.359_524del c.145+5794_145+5959del n.453_618del n.404_569del | ClinVar dbSNP |
| 11 | g.112094809C>A | CA382618737 | SDHD | c.*58C>A (n.*58C>A) c.314+5798C>A (n.314+5798C>A) c.319C>A (p.Leu107Ile) c.202C>A (p.Leu68Ile) n.319+5798C>A c.*17C>A (n.*17C>A) c.174C>A (p.Ala58=) c.312C>A (p.Ala104=) c.363C>A c.145+5798C>A n.457C>A n.408C>A | |
| 11 | g.112094809C= | CA2000553761 | SDHD | c.*58C= (n.*58C=) c.314+5798C= (n.314+5798C=) c.319C= (p.Leu107=) c.202C= (p.Leu68=) n.319+5798C= c.*17C= (n.*17C=) c.174C= (p.Ala58=) c.312C= (p.Ala104=) c.363C= c.145+5798C= n.457C= n.408C= | |
| 11 | g.112094809C>G | CA382618739 | SDHD | c.*58C>G (n.*58C>G) c.314+5798C>G (n.314+5798C>G) c.319C>G (p.Leu107Val) c.202C>G (p.Leu68Val) n.319+5798C>G c.*17C>G (n.*17C>G) c.174C>G (p.Ala58=) c.312C>G (p.Ala104=) c.363C>G c.145+5798C>G n.457C>G n.408C>G | ClinVar dbSNP |
| 11 | g.112094809C>T | CA382618740 | SDHD | c.*58C>T (n.*58C>T) c.314+5798C>T (n.314+5798C>T) c.319C>T (p.Leu107Phe) c.202C>T (p.Leu68Phe) n.319+5798C>T c.*17C>T (n.*17C>T) c.174C>T (p.Ala58=) c.312C>T (p.Ala104=) c.363C>T c.145+5798C>T n.457C>T n.408C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.112094810T>A | CA382618742 | SDHD | c.*59T>A (n.*59T>A) c.314+5799T>A (n.314+5799T>A) c.320T>A (p.Leu107His) c.203T>A (p.Leu68His) n.319+5799T>A c.*18T>A (n.*18T>A) c.175T>A (p.Leu59Met) c.313T>A (p.Leu105Met) c.364T>A c.145+5799T>A n.458T>A n.409T>A | |
| 11 | g.112094810T>C | CA382618744 | SDHD | c.*59T>C (n.*59T>C) c.314+5799T>C (n.314+5799T>C) c.320T>C (p.Leu107Pro) c.203T>C (p.Leu68Pro) n.319+5799T>C c.*18T>C (n.*18T>C) c.175T>C (p.Leu59=) c.313T>C (p.Leu105=) c.364T>C c.145+5799T>C n.458T>C n.409T>C | ClinVar |
| 11 | g.112094810T>G | CA10579346 | SDHD | c.*59T>G (n.*59T>G) c.314+5799T>G (n.314+5799T>G) c.320T>G (p.Leu107Arg) c.203T>G (p.Leu68Arg) n.319+5799T>G c.*18T>G (n.*18T>G) c.175T>G (p.Leu59Val) c.313T>G (p.Leu105Val) c.364T>G c.145+5799T>G n.458T>G n.409T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094810T= | CA2000553765 | SDHD | c.*59T= (n.*59T=) c.314+5799T= (n.314+5799T=) c.320T= (p.Leu107=) c.203T= (p.Leu68=) n.319+5799T= c.*18T= (n.*18T=) c.175T= (p.Leu59=) c.313T= (p.Leu105=) c.364T= c.145+5799T= n.458T= n.409T= | |
| 11 | g.112094811dup | CA2580083511 | SDHD | c.*60dup (n.*60dup) c.314+5800dup (n.314+5800dup) c.321dup (p.Gly108TrpfsTer6) c.204dup (p.Gly69TrpfsTer6) n.319+5800dup c.*19dup (n.*19dup) c.176dup (p.Leu59PhefsTer?) c.314dup (p.Leu105PhefsTer?) c.365dup c.145+5800dup n.459dup n.410dup | ClinVar dbSNP |
| 11 | g.112094811T>A | CA382618747 | SDHD | c.*60T>A (n.*60T>A) c.314+5800T>A (n.314+5800T>A) c.321T>A (p.Leu107=) c.204T>A (p.Leu68=) n.319+5800T>A c.*19T>A (n.*19T>A) c.176T>A (p.Leu59Ter) c.314T>A (p.Leu105Ter) c.365T>A c.145+5800T>A n.459T>A n.410T>A | |
| 11 | g.112094811T>C | CA382618754 | SDHD | c.*60T>C (n.*60T>C) c.314+5800T>C (n.314+5800T>C) c.321T>C (p.Leu107=) c.204T>C (p.Leu68=) n.319+5800T>C c.*19T>C (n.*19T>C) c.176T>C (p.Leu59Ser) c.314T>C (p.Leu105Ser) c.365T>C c.145+5800T>C n.459T>C n.410T>C | |
| 11 | g.112094811T>G | CA382618755 | SDHD | c.*60T>G (n.*60T>G) c.314+5800T>G (n.314+5800T>G) c.321T>G (p.Leu107=) c.204T>G (p.Leu68=) n.319+5800T>G c.*19T>G (n.*19T>G) c.176T>G (p.Leu59Trp) c.314T>G (p.Leu105Trp) c.365T>G c.145+5800T>G n.459T>G n.410T>G | |
| 11 | g.112094812G>A | CA382618759 | SDHD | c.*61G>A (n.*61G>A) c.314+5801G>A (n.314+5801G>A) c.322G>A (p.Gly108Arg) c.205G>A (p.Gly69Arg) n.319+5801G>A c.*20G>A (n.*20G>A) c.177G>A (p.Leu59=) c.315G>A (p.Leu105=) c.366G>A c.145+5801G>A n.460G>A n.411G>A | COSMIC |
| 11 | g.112094812G>C | CA382618760 | SDHD | c.*61G>C (n.*61G>C) c.314+5801G>C (n.314+5801G>C) c.322G>C (p.Gly108Arg) c.205G>C (p.Gly69Arg) n.319+5801G>C c.*20G>C (n.*20G>C) c.177G>C (p.Leu59Phe) c.315G>C (p.Leu105Phe) c.366G>C c.145+5801G>C n.460G>C n.411G>C | gnomAD v4 |
| 11 | g.112094812G>T | CA382618757 | SDHD | c.*61G>T (n.*61G>T) c.314+5801G>T (n.314+5801G>T) c.322G>T (p.Gly108Ter) c.205G>T (p.Gly69Ter) n.319+5801G>T c.*20G>T (n.*20G>T) c.177G>T (p.Leu59Phe) c.315G>T (p.Leu105Phe) c.366G>T c.145+5801G>T n.460G>T n.411G>T | |
| 11 | g.112094813G>A | CA382618764 | SDHD | c.*62G>A (n.*62G>A) c.314+5802G>A (n.314+5802G>A) c.323G>A (p.Gly108Glu) c.206G>A (p.Gly69Glu) n.319+5802G>A c.*21G>A (n.*21G>A) c.178G>A (p.Asp60Asn) c.316G>A (p.Asp106Asn) c.367G>A c.145+5802G>A n.461G>A n.412G>A | |
| 11 | g.112094813G>C | CA382618762 | SDHD | c.*62G>C (n.*62G>C) c.314+5802G>C (n.314+5802G>C) c.323G>C (p.Gly108Ala) c.206G>C (p.Gly69Ala) n.319+5802G>C c.*21G>C (n.*21G>C) c.178G>C (p.Asp60His) c.316G>C (p.Asp106His) c.367G>C c.145+5802G>C n.461G>C n.412G>C | |
| 11 | g.112094813G>T | CA382618766 | SDHD | c.*62G>T (n.*62G>T) c.314+5802G>T (n.314+5802G>T) c.323G>T (p.Gly108Val) c.206G>T (p.Gly69Val) n.319+5802G>T c.*21G>T (n.*21G>T) c.178G>T (p.Asp60Tyr) c.316G>T (p.Asp106Tyr) c.367G>T c.145+5802G>T n.461G>T n.412G>T | gnomAD v4 |
| 11 | g.112094813_112094814delinsTT | CA2740090850 | SDHD | c.*62_*63delinsTT (n.*62_*63delinsTT) c.314+5802_314+5803delinsTT (n.314+5802_314+5803delinsTT) c.323_324delinsTT (p.Gly108Val) c.206_207delinsTT (p.Gly69Val) n.319+5802_319+5803delinsTT c.*21_*22delinsTT (n.*21_*22delinsTT) c.178_179delinsTT (p.Asp60Phe) c.316_317delinsTT (p.Asp106Phe) c.367_368delinsTT c.145+5802_145+5803delinsTT n.461_462delinsTT n.412_413delinsTT | ClinVar |
| 11 | g.112094814A>C | CA382618767 | SDHD | c.*63A>C (n.*63A>C) c.314+5803A>C (n.314+5803A>C) c.324A>C (p.Gly108=) c.207A>C (p.Gly69=) n.319+5803A>C c.*22A>C (n.*22A>C) c.179A>C (p.Asp60Ala) c.317A>C (p.Asp106Ala) c.368A>C c.145+5803A>C n.462A>C n.413A>C | |
| 11 | g.112094814A>G | CA382618771 | SDHD | c.*63A>G (n.*63A>G) c.314+5803A>G (n.314+5803A>G) c.324A>G (p.Gly108=) c.207A>G (p.Gly69=) n.319+5803A>G c.*22A>G (n.*22A>G) c.179A>G (p.Asp60Gly) c.317A>G (p.Asp106Gly) c.368A>G c.145+5803A>G n.462A>G n.413A>G | |
| 11 | g.112094814A>T | CA382618769 | SDHD | c.*63A>T (n.*63A>T) c.314+5803A>T (n.314+5803A>T) c.324A>T (p.Gly108=) c.207A>T (p.Gly69=) n.319+5803A>T c.*22A>T (n.*22A>T) c.179A>T (p.Asp60Val) c.317A>T (p.Asp106Val) c.368A>T c.145+5803A>T n.462A>T n.413A>T | gnomAD v4 |
| 11 | g.112094815C>A | CA382618773 | SDHD | c.*64C>A (n.*64C>A) c.314+5804C>A (n.314+5804C>A) c.325C>A (p.Gln109Lys) c.208C>A (p.Gln70Lys) n.319+5804C>A c.*23C>A (n.*23C>A) c.180C>A (p.Asp60Glu) c.318C>A (p.Asp106Glu) c.369C>A c.145+5804C>A n.463C>A n.414C>A | |
| 11 | g.112094815C= | CA2000553775 | SDHD | c.*64C= (n.*64C=) c.314+5804C= (n.314+5804C=) c.325C= (p.Gln109=) c.208C= (p.Gln70=) n.319+5804C= c.*23C= (n.*23C=) c.180C= (p.Asp60=) c.318C= (p.Asp106=) c.369C= c.145+5804C= n.463C= n.414C= | |
| 11 | g.112094815C>G | CA382618774 | SDHD | c.*64C>G (n.*64C>G) c.314+5804C>G (n.314+5804C>G) c.325C>G (p.Gln109Glu) c.208C>G (p.Gln70Glu) n.319+5804C>G c.*23C>G (n.*23C>G) c.180C>G (p.Asp60Glu) c.318C>G (p.Asp106Glu) c.369C>G c.145+5804C>G n.463C>G n.414C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094815C>T | CA16613252 | SDHD | c.*64C>T (n.*64C>T) c.314+5804C>T (n.314+5804C>T) c.325C>T (p.Gln109Ter) c.208C>T (p.Gln70Ter) n.319+5804C>T c.*23C>T (n.*23C>T) c.180C>T (p.Asp60=) c.318C>T (p.Asp106=) c.369C>T c.145+5804C>T n.463C>T n.414C>T | ClinVar dbSNP |
| 11 | g.112094815_112094817delinsCAA | CA2000553771 | SDHD | c.*64_*66delinsCAA (n.*64_*66delinsCAA) c.314+5804_314+5806delinsCAA (n.314+5804_314+5806delinsCAA) c.325_327delinsCAA (p.Gln109=) c.208_210delinsCAA (p.Gln70=) n.319+5804_319+5806delinsCAA c.*23_*25delinsCAA (n.*23_*25delinsCAA) c.180_182delinsCAA (p.Asp60=) c.318_320delinsCAA (p.Asp106=) c.369_371delinsCAA c.145+5804_145+5806delinsCAA n.463_465delinsCAA n.414_416delinsCAA | |
| 11 | g.112094816A>C | CA382618776 | SDHD | c.*65A>C (n.*65A>C) c.314+5805A>C (n.314+5805A>C) c.326A>C (p.Gln109Pro) c.209A>C (p.Gln70Pro) n.319+5805A>C c.*24A>C (n.*24A>C) c.181A>C (p.Lys61Gln) c.319A>C (p.Lys107Gln) c.370A>C c.145+5805A>C n.464A>C n.415A>C | |
| 11 | g.112094816A>G | CA382618780 | SDHD | c.*65A>G (n.*65A>G) c.314+5805A>G (n.314+5805A>G) c.326A>G (p.Gln109Arg) c.209A>G (p.Gln70Arg) n.319+5805A>G c.*24A>G (n.*24A>G) c.181A>G (p.Lys61Glu) c.319A>G (p.Lys107Glu) c.370A>G c.145+5805A>G n.464A>G n.415A>G | |
| 11 | g.112094816A>T | CA382618778 | SDHD | c.*65A>T (n.*65A>T) c.314+5805A>T (n.314+5805A>T) c.326A>T (p.Gln109Leu) c.209A>T (p.Gln70Leu) n.319+5805A>T c.*24A>T (n.*24A>T) c.181A>T (p.Lys61Ter) c.319A>T (p.Lys107Ter) c.370A>T c.145+5805A>T n.464A>T n.415A>T | |
| 11 | g.112094816_112094817del | CA915947749 | SDHD | c.*65_*66del (n.*65_*66del) c.314+5805_314+5806del (n.314+5805_314+5806del) c.326_327del (p.Gln109ArgfsTer4) c.209_210del (p.Gln70ArgfsTer4) n.319+5805_319+5806del c.*24_*25del (n.*24_*25del) c.181_182del (p.Lys61ValfsTer?) c.319_320del (p.Lys107ValfsTer?) c.370_371del c.145+5805_145+5806del n.464_465del n.415_416del | ClinVar dbSNP |
| 11 | g.112094817A= | CA2000553783 | SDHD | c.*66A= (n.*66A=) c.314+5806A= (n.314+5806A=) c.327A= (p.Gln109=) c.210A= (p.Gln70=) n.319+5806A= c.*25A= (n.*25A=) c.182A= (p.Lys61=) c.320A= (p.Lys107=) c.371A= c.145+5806A= n.465A= n.416A= | |
| 11 | g.112094817A>C | CA382618782 | SDHD | c.*66A>C (n.*66A>C) c.314+5806A>C (n.314+5806A>C) c.327A>C (p.Gln109His) c.210A>C (p.Gln70His) n.319+5806A>C c.*25A>C (n.*25A>C) c.182A>C (p.Lys61Thr) c.320A>C (p.Lys107Thr) c.371A>C c.145+5806A>C n.465A>C n.416A>C | |
| 11 | g.112094817A>G | CA382618786 | SDHD | c.*66A>G (n.*66A>G) c.314+5806A>G (n.314+5806A>G) c.327A>G (p.Gln109=) c.210A>G (p.Gln70=) n.319+5806A>G c.*25A>G (n.*25A>G) c.182A>G (p.Lys61Arg) c.320A>G (p.Lys107Arg) c.371A>G c.145+5806A>G n.465A>G n.416A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112094817A>T | CA382618784 | SDHD | c.*66A>T (n.*66A>T) c.314+5806A>T (n.314+5806A>T) c.327A>T (p.Gln109His) c.210A>T (p.Gln70His) n.319+5806A>T c.*25A>T (n.*25A>T) c.182A>T (p.Lys61Met) c.320A>T (p.Lys107Met) c.371A>T c.145+5806A>T n.465A>T n.416A>T | |
| 11 | g.112094817_112094820delinsAGTT | CA2000553781 | SDHD | c.*66_*69delinsAGTT (n.*66_*69delinsAGTT) c.314+5806_314+5809delinsAGTT (n.314+5806_314+5809delinsAGTT) c.327_330delinsAGTT (p.Gln109=) c.210_213delinsAGTT (p.Gln70=) n.319+5806_319+5809delinsAGTT c.*25_*28delinsAGTT (n.*25_*28delinsAGTT) c.182_185delinsAGTT (p.Lys61=) c.320_323delinsAGTT (p.Lys107=) c.371_374delinsAGTT c.145+5806_145+5809delinsAGTT n.465_468delinsAGTT n.416_419delinsAGTT | |
| 11 | g.112094818G>A | CA16613228 | SDHD | c.*67G>A (n.*67G>A) c.314+5807G>A (n.314+5807G>A) c.328G>A (p.Val110Ile) c.211G>A (p.Val71Ile) n.319+5807G>A c.*26G>A (n.*26G>A) c.183G>A (p.Lys61=) c.321G>A (p.Lys107=) c.372G>A c.145+5807G>A n.466G>A n.417G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112094818G>C | CA382618788 | SDHD | c.*67G>C (n.*67G>C) c.314+5807G>C (n.314+5807G>C) c.328G>C (p.Val110Leu) c.211G>C (p.Val71Leu) n.319+5807G>C c.*26G>C (n.*26G>C) c.183G>C (p.Lys61Asn) c.321G>C (p.Lys107Asn) c.372G>C c.145+5807G>C n.466G>C n.417G>C | ClinVar |
| 11 | g.112094818G= | CA2000553793 | SDHD | c.*67G= (n.*67G=) c.314+5807G= (n.314+5807G=) c.328G= (p.Val110=) c.211G= (p.Val71=) n.319+5807G= c.*26G= (n.*26G=) c.183G= (p.Lys61=) c.321G= (p.Lys107=) c.372G= c.145+5807G= n.466G= n.417G= | |
| 11 | g.112094818G>T | CA382618787 | SDHD | c.*67G>T (n.*67G>T) c.314+5807G>T (n.314+5807G>T) c.328G>T (p.Val110Phe) c.211G>T (p.Val71Phe) n.319+5807G>T c.*26G>T (n.*26G>T) c.183G>T (p.Lys61Asn) c.321G>T (p.Lys107Asn) c.372G>T c.145+5807G>T n.466G>T n.417G>T | |
| 11 | g.112094821_112094823del | CA645509539 | SDHD | c.*70_*72del (n.*70_*72del) c.314+5810_314+5812del (n.314+5810_314+5812del) c.331_333del (p.Val111del) c.214_216del (p.Val72del) n.319+5810_319+5812del c.*29_*31del (n.*29_*31del) c.186_188del (p.Leu63del) c.324_326del (p.Leu109del) c.375_377del c.145+5810_145+5812del n.469_471del n.420_422del | ClinVar dbSNP |
| 11 | g.112094819T>A | CA382618790 | SDHD | c.*68T>A (n.*68T>A) c.314+5808T>A (n.314+5808T>A) c.329T>A (p.Val110Asp) c.212T>A (p.Val71Asp) n.319+5808T>A c.*27T>A (n.*27T>A) c.184T>A (p.Leu62Met) c.322T>A (p.Leu108Met) c.373T>A c.145+5808T>A n.467T>A n.418T>A | |
| 11 | g.112094819T>C | CA382618792 | SDHD | c.*68T>C (n.*68T>C) c.314+5808T>C (n.314+5808T>C) c.329T>C (p.Val110Ala) c.212T>C (p.Val71Ala) n.319+5808T>C c.*27T>C (n.*27T>C) c.184T>C (p.Leu62=) c.322T>C (p.Leu108=) c.373T>C c.145+5808T>C n.467T>C n.418T>C | gnomAD v4 |
| 11 | g.112094819T>G | CA382618794 | SDHD | c.*68T>G (n.*68T>G) c.314+5808T>G (n.314+5808T>G) c.329T>G (p.Val110Gly) c.212T>G (p.Val71Gly) n.319+5808T>G c.*27T>G (n.*27T>G) c.184T>G (p.Leu62Val) c.322T>G (p.Leu108Val) c.373T>G c.145+5808T>G n.467T>G n.418T>G | |
| 11 | g.112094820T>A | CA382618797 | SDHD | c.*69T>A (n.*69T>A) c.314+5809T>A (n.314+5809T>A) c.330T>A (p.Val110=) c.213T>A (p.Val71=) n.319+5809T>A c.*28T>A (n.*28T>A) c.185T>A (p.Leu62Ter) c.323T>A (p.Leu108Ter) c.374T>A c.145+5809T>A n.468T>A n.419T>A | |
| 11 | g.112094820T>C | CA382618798 | SDHD | c.*69T>C (n.*69T>C) c.314+5809T>C (n.314+5809T>C) c.330T>C (p.Val110=) c.213T>C (p.Val71=) n.319+5809T>C c.*28T>C (n.*28T>C) c.185T>C (p.Leu62Ser) c.323T>C (p.Leu108Ser) c.374T>C c.145+5809T>C n.468T>C n.419T>C | |
| 11 | g.112094820T>G | CA382618801 | SDHD | c.*69T>G (n.*69T>G) c.314+5809T>G (n.314+5809T>G) c.330T>G (p.Val110=) c.213T>G (p.Val71=) n.319+5809T>G c.*28T>G (n.*28T>G) c.185T>G (p.Leu62Trp) c.323T>G (p.Leu108Trp) c.374T>G c.145+5809T>G n.468T>G n.419T>G |